ABSTRACT
La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)
The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)
Subject(s)
Developmental Disabilities , Intellectual Disability , Disabled Persons , SpainABSTRACT
La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)
The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)
Subject(s)
Developmental Disabilities , Intellectual Disability , Disabled Persons , SpainABSTRACT
BACKGROUND: Brain-based developmental disabilities (BBDDs) comprise a large and heterogeneous group of disorders including autism, intellectual disability, cerebral palsy or genetic and neurodevelopmental disorders. Parents caring for a child with BBDD face multiple challenges that cause increased stress and high risk of mental health problems. Peer-based support by fellow parents for a various range of patient groups has shown potential to provide emotional, psychological and practical support. Here, we aim to explore existing literature on individual peer-to-peer support (iP2PS) interventions for parents caring for children with BBDD with a view to (1) explore the impact of iP2PS interventions on parents and (2) identify challenges and facilitators of iP2PS. METHOD: An extensive literature search (January 2023) was performed, and a thematic analysis was conducted to synthesize findings. RESULTS: Fourteen relevant articles revealed three major themes regarding the impact of iP2PS on parents: (1) emotional and psychological well-being, (2) quality of life and (3) practical issues. Four themes were identified describing challenges and facilitators of iP2PS: (1) benefits and burden of giving support, (2) matching parent-pairs, (3) logistic challenges and solutions and (4) training and supervision of parents providing peer support. CONCLUSIONS: This review revealed that iP2PS has a positive impact on the emotional and psychological well-being of parents, as well as the overall quality of life for families caring for a child with a BBDD. Individual P2PS offers peer-parents an opportunity to support others who are facing challenges similar to those they have experienced themselves. However, many questions still need to be addressed regarding benefits of different iP2PS styles, methods of tailoring support to individual needs and necessity of training and supervision for peer support providers. Future research should focus on defining these components and evaluating benefits to establish effective iP2PS that can be provided as standard care practice for parents.
Subject(s)
Intellectual Disability , Quality of Life , Child , Humans , Developmental Disabilities/therapy , Parents/psychology , BrainABSTRACT
BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic has had a significant impact on the neurodevelopment of children. However, the precise effects of the virus and the social consequences of the pandemic on pediatric neurodevelopment are not yet fully understood. We aimed to compare the neurodevelopment of children between before and during the COVID-19 pandemic, as well as examine the impact of socioeconomic status (SES) and regional differences on the development. METHODS: The study used the Korean Developmental Screening Test to compare the difference in the risk of neurodevelopmental delay between before and during the COVID-19 pandemic. Multivariable logistic regression analysis was conducted to identify the relationship between experiencing the COVID-19 pandemic and the risk of neurodevelopmental delay. Stratified analyses were performed to determine whether the developmental delays caused by the pandemic's impact varied depending on SES or regional inequality. RESULTS: This study found an association between the experience of COVID-19 and a higher risk of neurodevelopmental delay in communication (adjusted OR [aOR]: 1.21, 95% confidence interval [CI]: 1.19, 1.22; P-value: < 0.0001) and social interaction (aOR: 1.15, 95% CI: 1.13, 1.17; P-value: < 0.0001) domains among children of 30-36 months' ages. Notably, the observed association in the Medicaid group of children indicates a higher risk of neurodevelopmental delay compared to those in the non-Medicaid group. CONCLUSIONS: These findings highlight the need to be concerned about the neurodevelopment of children who experienced the COVID-19 pandemic. The study also calls for increased training and support for Medicaid children, parents, teachers, and healthcare practitioners. Additionally, policy programs focused on groups vulnerable to developmental delays are required.
Subject(s)
COVID-19 , Pandemics , Infant , Humans , Child , Developmental Disabilities/epidemiology , Developmental Disabilities/etiology , COVID-19/epidemiology , Child Development , ParentsABSTRACT
BACKGROUND: This study examined the correlation of classroom ventilation (air exchanges per hour (ACH)) and exposure to CO2 ≥1,000 ppm with the incidence of SARS-CoV-2 over a 20-month period in a specialized school for students with intellectual and developmental disabilities (IDD). These students were at a higher risk of respiratory infection from SARS-CoV-2 due to challenges in tolerating mitigation measures (e.g. masking). One in-school measure proposed to help mitigate the risk of SARS-CoV-2 infection in schools is increased ventilation. METHODS: We established a community-engaged research partnership between the University of Rochester and the Mary Cariola Center school for students with IDD. Ambient CO2 levels were measured in 100 school rooms, and air changes per hour (ACH) were calculated. The number of SARS-CoV-2 cases for each room was collected over 20 months. RESULTS: 97% of rooms had an estimated ACH ≤4.0, with 7% having CO2 levels ≥2,000 ppm for up to 3 hours per school day. A statistically significant correlation was found between the time that a room had CO2 levels ≥1,000 ppm and SARS-CoV-2 PCR tests normalized to room occupancy, accounting for 43% of the variance. No statistically significant correlation was found for room ACH and per-room SARS-CoV-2 cases. Rooms with ventilation systems using MERV-13 filters had lower SARS-CoV-2-positive PCR counts. These findings led to ongoing efforts to upgrade the ventilation systems in this community-engaged research project. CONCLUSIONS: There was a statistically significant correlation between the total time of room CO2 concentrations ≥1,000 and SARS-CoV-2 cases in an IDD school. Merv-13 filters appear to decrease the incidence of SARS-CoV-2 infection. This research partnership identified areas for improving in-school ventilation.
Subject(s)
COVID-19 , Child , Humans , COVID-19/epidemiology , SARS-CoV-2 , Carbon Dioxide/analysis , Developmental Disabilities/epidemiology , Schools , Students , VentilationABSTRACT
BACKGROUND: Despite the enactment of disability laws/policies in India, research shows that caregivers of adults with intellectual and/or developmental disabilities experience inadequate formal supports/services due to dissemination barriers and lack of awareness about them. To address discrepancy between caregivers' support needs and the professionals' understanding of their needs, the study proposed to conduct a caregiver needs assessment so that culturally-tailored programs are developed. METHOD: A strengths-based mixed methods needs assessment was conducted with a convenience sample of 100 caregivers in Hyderabad, India. One hundred caregivers completed the survey and 15 caregivers participated in semi-structured interviews. RESULTS: Caregivers needed more and improved formal supports/services, particularly from the government. Caregivers faced systemic and attitudinal barriers, and personal impediments to accessing them. Needs differed by care recipients' intellectual disability level, gender, and intellectual disability related conditions. CONCLUSIONS: Researchers, service providers and policymakers need to adopt innovative strategies to improve formal supports/services access.
Subject(s)
Caregivers , Intellectual Disability , Adult , Child , Humans , Developmental Disabilities , IndiaABSTRACT
PROBLEM: The COVID-19 pandemic has led to a youth mental health crisis, with research demonstrating an increased prevalence of depression, anxiety, and disruptive behavior in youth compared to pre-pandemic years. Consequently, the insurgence of emergency psychiatric evaluations has increased the demands for extended inpatient stay (or patient boarding) at various licensed treatment facilities. Questions remain about the extent of burnout being experienced by behavior technicians who are caring for these patients. METHODS: The Shirom-Melamed Burnout Measure was used to evaluate symptoms of burnout of behavior technicians practicing at a specialized psychiatric inpatient unit. Comparisons were made for instances of caring for boarded (meeting criteria for discharge but unable to be discharged due to disposition) and traditional patients (short-term treatment). FINDINGS: Behavior technicians caring for boarded patients reported significantly higher scores in overall stress, physical exhaustion, cognitive fatigue, and emotional exhaustion than those managing patients getting traditional care. CONCLUSIONS: Extensive burnout can have adverse impacts at both the personal level (staff well-being, individual staff-patient interactions) and clinic level (daily operations and service, general quality of care). Efforts need to be made to address this issue to prevent staff turnover.
Subject(s)
Burnout, Professional , Inpatients , Adolescent , Child , Humans , Pandemics , Developmental Disabilities , Burnout, Professional/epidemiology , Burnout, Professional/psychology , Anxiety/epidemiologyABSTRACT
Self-inflicted oral injuries, accidental or otherwise, can cause major consequences. Measures need to be taken to protect individuals from chronic self-injurious behaviour; however, there are no official guidelines on the subject. The purpose of this article is to show the case of a 1-year-old patient with neurological disorders who, following the eruption of deciduous teeth, had self-inflicted a traumatic ulcer on his tongue and lower lip. Following a multidisciplinary approach involving several operating units of our hospital to make a diagnosis, an oral device was designed to completely cover the dental elements to prevent recurrence of the trauma and to prevent further worsening of the injuries already caused. The purpose of this work is to demonstrate that although the surgical approach, such as extraction of the dental elements, may be the quickest solution in situations similar to the one presented, the high biological cost and irreversibility of the result lead to seeking alternatives and more conservative solutions such as the one described.
Subject(s)
Cerebellum/abnormalities , Nervous System Diseases , Nervous System Malformations , Self Mutilation , Self-Injurious Behavior , Infant , Humans , Self Mutilation/etiology , Self Mutilation/prevention & control , Self-Injurious Behavior/complications , Self-Injurious Behavior/prevention & control , Nervous System Diseases/complications , Dental Care/adverse effects , Developmental DisabilitiesABSTRACT
The impact of long-term services and supports on the quality of life of adults with intellectual and developmental disabilities (IDD) is not well understood given the highly complex nature of researching this topic. To support future research addressing this topic, we conducted a systematic literature review of studies addressing outcomes of adults with IDD receiving long-term services and supports. Results of this review describe current outcomes for adults with IDD who receive long-term services and supports and can be used to inform program evaluation, policy development, and future research.
Subject(s)
Intellectual Disability , Quality of Life , Adult , Humans , Developmental Disabilities/therapy , Intellectual Disability/therapy , Program EvaluationABSTRACT
There are 21 human cyclin-dependent kinases which are involved in regulation of the cell cycle, transcription, RNA splicing, apoptosis and neurogenesis. Five of them: CDK4, CDK5, CDK6, CDK10 and CDK13 are associated with human phenotypes. To date, only 62 patients have been presented with mutated CDK13 gene. Those patients had developmental delay, dysmorphic facial features, feeding difficulties, different structural heart and brain defects. 36 of them had missense mutation affecting the protein kinase domain of CDK13. Our patient is the first person reported so far with a frameshift mutation which introduce premature stop codon in the first exon of the CDK13 gene. She has symptoms characteristic for congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD).
Subject(s)
Developmental Disabilities , Heart Defects, Congenital , Intellectual Disability , Child , Female , Humans , CDC2 Protein Kinase/genetics , Cyclin-Dependent Kinases/genetics , Developmental Disabilities/genetics , Heart Defects, Congenital/genetics , Intellectual Disability/genetics , Mutation, Missense , PhenotypeABSTRACT
BACKGROUND: Individuals with developmental disabilities (DD) experience increased rates of emotional and behavioral crises that necessitate assessment and intervention. Psychiatric disorders can contribute to crises; however, screening measures developed for the general population are inadequate for those with DD. Medical conditions can exacerbate crises and merit evaluation. Screening tools using checklist formats, even when designed for DD, are too limited in depth and scope for crisis assessments. The Sources of Distress survey implements a web-based branching logic format to screen for common psychiatric and medical conditions experienced by individuals with DD by querying caregiver knowledge and observations. OBJECTIVE: This paper aims to (1) describe the initial survey development, (2) report on focus group and expert review processes and findings, and (3) present results from the survey's clinical implementation and evaluation of validity. METHODS: Sources of Distress was reviewed by focus groups and clinical experts; this feedback informed survey revisions. The survey was subsequently implemented in clinical settings to augment providers' psychiatric and medical history taking. Informal and formal consults followed the completion of Sources of Distress for a subset of individuals. A records review was performed to identify working diagnoses established during these consults. RESULTS: Focus group members (n=17) expressed positive feedback overall about the survey's content and provided specific recommendations to add categories and items. The survey was completed for 231 individuals with DD in the clinical setting (n=161, 69.7% men and boys; mean age 17.7, SD 10.3; range 2-65 years). Consults were performed for 149 individuals (n=102, 68.5% men and boys; mean age 18.9, SD 10.9 years), generating working diagnoses to compare survey screening results. Sources of Distress accuracy rates were 91% (95% CI 85%-95%) for posttraumatic stress disorder, 87% (95% CI 81%-92%) for anxiety, 87% (95% CI 81%-92%) for episodic expansive mood and bipolar disorder, 82% (95% CI 75%-87%) for psychotic disorder, 79% (95% CI 71%-85%) for unipolar depression, and 76% (95% CI 69%-82%) for attention-deficit/hyperactivity disorder. While no specific survey items or screening algorithm existed for unspecified mood disorder and disruptive mood dysregulation disorder, these conditions were caregiver-reported and working diagnoses for 11.7% (27/231) and 16.8% (25/149) of individuals, respectively. CONCLUSIONS: Caregivers described Sources of Distress as an acceptable tool for sharing their knowledge and insights about individuals with DD who present in crisis. As a screening tool, this survey demonstrates good accuracy. However, better differentiation among mood disorders is needed, including the addition of items and screening algorithm for unspecified mood disorder and disruptive mood dysregulation disorder. Additional validation efforts are necessary to include a more geographically diverse population and reevaluate mood disorder differentiation. Future study is merited to investigate the survey's impact on the psychiatric and medical management of distress in individuals with DD.
Subject(s)
Attention Deficit Disorder with Hyperactivity , Developmental Disabilities , Male , Child , Humans , Adolescent , Female , Developmental Disabilities/epidemiology , Mood Disorders/diagnosis , Attention Deficit Disorder with Hyperactivity/epidemiology , Anxiety Disorders/diagnosis , InternetABSTRACT
GOAL: To address healthcare spending growth, coordinate care, and improve primary care utilization, a majority of states in the United States have adopted value-based care coordination programs. The objective of this study was to identify changes in national healthcare utilization for children with developmental disabilities (DDs), a high-cost and high-need population, following the broad adoption of value-based care coordination policies. METHODS: This retrospective study included 9,109 children with DDs and used data from 2002-2018 Medical Expenditure Panel Survey. We applied an interrupted time series design approach to compare pre- and post-Affordable Care Act (ACA) care coordination policies concerning healthcare utilization outcomes, including outpatient visits, home provider days, emergency department (ED) visits, inpatient discharge, and inpatient nights of stay. PRINCIPAL FINDINGS: We found statistically significant increases in low-cost care post-ACA, including outpatient visits (5% higher, p < .001) and home provider days (11% higher, p < .001). The study findings also showed a statistically significant increase in inpatient nights of stay post-ACA (4% higher, p = .001). There were no changes in the number of ED and inpatient visits. Overall, broad implementation of care coordination programs was associated with increased utilization of low-cost care without increases in the number of high-cost ED and inpatient visits for children with DDs. Our study also found changes in population composition among children with DDs post-ACA, including increases in Hispanic (16.9% post-ACA vs. 13.4% pre-ACA, p = .006) and non-Hispanic multiracial children (9.1% post-ACA vs. 5.5% pre-ACA, p = .001), a decrease in non-Hispanic Whites (60.2% post-ACA vs. 68.6% pre-ACA, p = .001), more public-only insurance (44.3% post-ACA vs. 35.7% pre-ACA, p = .001), fewer children with DDs from middle-income families (27.4% post-ACA vs. 32.8% pre-ACA, p < .001), and more children with DDs from poor families (28.2% post-ACA vs. 25.1% pre-ACA, p = .043). PRACTICAL APPLICATIONS: These findings highlight the importance of continued support for broad care coordination programs for U.S. children with DDs and potentially others with complex chronic conditions. Policymakers and healthcare leaders might consider improving care transitions from inpatient to community or home settings by overcoming barriers such as payment models and the lack of home care nurses who can manage complex chronic conditions. Healthcare leaders also need to understand and consider the changing population composition when implementing care coordination-related policies. This study provides data regarding trends in hospital and home care utilization and evidence of the effectiveness of care coordination policies before the COVID-19 interruption. These findings apply to current healthcare management because COVID-19 has incentivized home care, which may have a strong potential to minimize high-cost care for people with complex chronic conditions. More research is warranted to continue monitoring care coordination changes over a longer period.
Subject(s)
COVID-19 , Patient Protection and Affordable Care Act , Child , Humans , United States , Retrospective Studies , Developmental Disabilities , Emergency Service, Hospital , Delivery of Health Care , Policy , Chronic Disease , Patient Acceptance of Health CareABSTRACT
BACKGROUND: The benefits of friendships among peers with and without intellectual and developmental disabilities are well supported by research. However, little is known about the nature of these inclusive friendships in inclusive college courses. METHOD: We explored the perspectives of peers on the development of authentic friendships among peers with and without intellectual and developmental disabilities in inclusive college courses in the United States. We used a sequential, explanatory, transformative mixed methods-grounded theory research design. We integrated quantitative (N = 44) and qualitative (N = 8) findings using blended analysis to inform a preliminary grounded theory of inclusive and reciprocal friendships. RESULTS: Quantitative findings suggest two relationships and one predictor of peers' perceived social engagement. Qualitative findings resulted in five themes that promote friendships. CONCLUSIONS: We propose that the context for developing inclusive friendships could be fostered using the preparation and actions stages of the grounded theory model.
Subject(s)
Friends , Intellectual Disability , Child , Humans , Developmental Disabilities , Peer Group , Social ParticipationSubject(s)
Developmental Disabilities , Suicide , Child , Humans , Adolescent , Developmental Disabilities/diagnosisABSTRACT
BACKGROUND: During the COVID-19 pandemic, the United States' Centers for Disease Control and Prevention (CDC) created guidance documents that were too complex to be read and understood by the majority of adults with intellectual and developmental disabilities who often read at or below a third-grade reading level. This study explored the extent to which these adults could read and understand CDC documents simplified using Minimised Text Complexity Guidelines. METHOD: This study involved 20 participants, 18-48 years of age. Participants read texts and responded to multiple-choice items and open-ended questions to gather information about how they interacted with and understood the texts. RESULTS: The results provide initial evidence that the Minimised Text Complexity Guidelines resulted in texts that participants could read and understand. CONCLUSION: Implications for increasing the accessibility of public health information so that it can be read and understood by adults with extremely low literacy skills are discussed.
Subject(s)
COVID-19 , Intellectual Disability , Adult , Humans , Comprehension , Developmental Disabilities , Pandemics/prevention & controlABSTRACT
BACKGROUND: Adequate implementation of infection prevention and control (IPC) in residential care facilities (RCFs) for people with intellectual and developmental disabilities (IDDs) is crucial to safeguarding this vulnerable population. Studies in this field are scarce. This study aimed to identify perceived barriers to and facilitators of IPC among professionals working in these settings, along with recommendations to improve IPC, to inform the development of targeted interventions. METHODS: We administered an online questionnaire to 319 professionals from 16 Dutch RCFs for people with IDDs (March 2021-March 2022). Perceived multilevel barriers and facilitators (guideline, client, interpersonal, organisational, care sector, and policy level) were measured on a 5-point Likert scale (totally disagree-totally agree). Recommendations were assessed using a 5-point Likert scale (not at all helpful-extremely helpful), supplemented by an open-ended question. Barriers, facilitators, and recommendations were analysed by descriptive statistics. Open answers to recommendations were analysed through thematic coding. RESULTS: Barriers to IPC implementation included the client group (e.g., lack of hygiene awareness) (63%), competing values between IPC and the home-like environment (42%), high work pressure (39%), and the overwhelming quantity of IPC guidelines/protocols (33%). Facilitators included perceived social support on IPC between professionals and from supervisors (90% and 80%, respectively), procedural clarity of IPC guidelines/protocols (83%), and the sense of urgency for IPC in the organisation (74%). Main recommendations included the implementation of clear IPC policies and regulations (86%), the development of a practical IPC guideline (84%), and the introduction of structural IPC education and training programmes (for new staff members) (85%). Professionals also emphasised the need for IPC improvement efforts to be tailored to the local care context, and to involve clients and their relatives. CONCLUSIONS: To improve IPC in disability care settings, multifaceted strategies should be adopted. Initial efforts should involve clients (and relatives), develop a practical and context-specific IPC guideline, encourage social support among colleagues through interprofessional coaching, reduce workload, and foster an IPC culture including shared responsibility within the organisation.
Subject(s)
Developmental Disabilities , Ethnicity , Humans , Child , Cross-Sectional Studies , Developmental Disabilities/prevention & control , Dietary Supplements , HygieneABSTRACT
OBJECTIVE: To explore the genetic basis for a patient with unexplained developmental delay and special facial features. METHODS: A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing. RESULTS: The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c.1123G>C (p.E375Q) variant of the CHD3 gene, neither of which was detected in his parents. CONCLUSION: The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.
